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Validation of a PPMO morpholino lead compound in an animal model of FSHD

Investigator: Scott Q Harper PhD

Developing therapies for genetic diseases, like FSHD, requires knowledge about the genes involved. Without this knowledge, it is difficult or nearly impossible to design and test treatment strategies. Such was the case for FSHD; the root causes of the disease were difficult to understand and it took several decades to identify genes that could be targets for therapy. Recently, abnormal levels of a toxic gene, called DUX4, have been linked to FSHD. The identification of DUX4 has opened a new era in FSHD research, by allowing the development of rational treatment strategies for the first time. We propose that treatments for FSHD should be focused on turning DUX4 “off” in FSHD muscles. In this study, we will develop and test a strategy to suppress DUX4 in mice, using a class of drugs called morpholinos, or PMOs. This work represents an important first step in the drug development process, and its successful completion will allow us to take additional steps toward creating a safe and effective FSHD therapy for use in humans.